Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34258 | 102997;102998;102999 | chr2:178533843;178533842;178533841 | chr2:179398570;179398569;179398568 |
| N2AB | 32617 | 98074;98075;98076 | chr2:178533843;178533842;178533841 | chr2:179398570;179398569;179398568 |
| N2A | 31690 | 95293;95294;95295 | chr2:178533843;178533842;178533841 | chr2:179398570;179398569;179398568 |
| N2B | 25193 | 75802;75803;75804 | chr2:178533843;178533842;178533841 | chr2:179398570;179398569;179398568 |
| Novex-1 | 25318 | 76177;76178;76179 | chr2:178533843;178533842;178533841 | chr2:179398570;179398569;179398568 |
| Novex-2 | 25385 | 76378;76379;76380 | chr2:178533843;178533842;178533841 | chr2:179398570;179398569;179398568 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs752360286  |
-2.446 | 0.885 | D | 0.785 | 0.454 | 0.31411915649 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| P/S | rs752360286 |
-2.446 | 0.885 | D | 0.785 | 0.454 | 0.31411915649 | gnomAD-4.0.0 | 1.02624E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.34911E-05 | 0 | 0 |
| P/T | rs752360286 |
-1.899 | 0.982 | N | 0.79 | 0.454 | 0.346315397577 | gnomAD-2.1.1 | 4.42E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-05 | 0 |
| P/T | rs752360286 |
-1.899 | 0.982 | N | 0.79 | 0.454 | 0.346315397577 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| P/T | rs752360286 |
-1.899 | 0.982 | N | 0.79 | 0.454 | 0.346315397577 | gnomAD-4.0.0 | 3.90374E-05 | None | None | None | None | N | None | 2.66987E-05 | 6.66644E-05 | None | 0 | 0 | None | 0 | 1.64366E-04 | 4.32251E-05 | 1.09779E-05 | 6.40369E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7344 | likely_pathogenic | 0.7683 | pathogenic | -1.943 | Destabilizing | 0.17 | N | 0.659 | neutral | N | 0.473467201 | None | None | N |
| P/C | 0.9798 | likely_pathogenic | 0.9864 | pathogenic | -1.38 | Destabilizing | 0.999 | D | 0.84 | deleterious | None | None | None | None | N |
| P/D | 0.9987 | likely_pathogenic | 0.9982 | pathogenic | -2.292 | Highly Destabilizing | 0.993 | D | 0.81 | deleterious | None | None | None | None | N |
| P/E | 0.9944 | likely_pathogenic | 0.9938 | pathogenic | -2.195 | Highly Destabilizing | 0.993 | D | 0.794 | deleterious | None | None | None | None | N |
| P/F | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.299 | Destabilizing | 0.986 | D | 0.859 | deleterious | None | None | None | None | N |
| P/G | 0.988 | likely_pathogenic | 0.9885 | pathogenic | -2.369 | Highly Destabilizing | 0.953 | D | 0.804 | deleterious | None | None | None | None | N |
| P/H | 0.9961 | likely_pathogenic | 0.9949 | pathogenic | -2.035 | Highly Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| P/I | 0.9736 | likely_pathogenic | 0.979 | pathogenic | -0.814 | Destabilizing | 0.973 | D | 0.842 | deleterious | None | None | None | None | N |
| P/K | 0.9959 | likely_pathogenic | 0.9945 | pathogenic | -1.683 | Destabilizing | 0.993 | D | 0.795 | deleterious | None | None | None | None | N |
| P/L | 0.9361 | likely_pathogenic | 0.9406 | pathogenic | -0.814 | Destabilizing | 0.1 | N | 0.728 | prob.delet. | N | 0.497305447 | None | None | N |
| P/M | 0.9906 | likely_pathogenic | 0.99 | pathogenic | -0.695 | Destabilizing | 0.996 | D | 0.84 | deleterious | None | None | None | None | N |
| P/N | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | -1.65 | Destabilizing | 0.998 | D | 0.843 | deleterious | None | None | None | None | N |
| P/Q | 0.9911 | likely_pathogenic | 0.9905 | pathogenic | -1.701 | Destabilizing | 0.997 | D | 0.807 | deleterious | D | 0.522299464 | None | None | N |
| P/R | 0.9871 | likely_pathogenic | 0.9846 | pathogenic | -1.267 | Destabilizing | 0.991 | D | 0.84 | deleterious | D | 0.522299464 | None | None | N |
| P/S | 0.9676 | likely_pathogenic | 0.9718 | pathogenic | -2.198 | Highly Destabilizing | 0.885 | D | 0.785 | deleterious | D | 0.522299464 | None | None | N |
| P/T | 0.9509 | likely_pathogenic | 0.9521 | pathogenic | -1.986 | Destabilizing | 0.982 | D | 0.79 | deleterious | N | 0.492585414 | None | None | N |
| P/V | 0.9106 | likely_pathogenic | 0.9272 | pathogenic | -1.159 | Destabilizing | 0.91 | D | 0.791 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.677 | Destabilizing | 0.999 | D | 0.784 | deleterious | None | None | None | None | N |
| P/Y | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -1.357 | Destabilizing | 0.993 | D | 0.858 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.